X-linked adrenoleukodystrophy
Abstract
X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. X-ALD is panethnic and affects approximately 1:20,000 males. Phenotypes include the rapidly progressive childhood, adolescent, and adult cerebral forms; adrenomyeloneuropathy, which presents as slowly progressive paraparesis in adults; and Addison disease without neurologic manifestations. These phenotypes are frequently misdiagnosed, respectively, as attention-deficit hyperactivity disorder (ADHD), multiple sclerosis, or idiopathic Addison disease. Approximately 50% of female carriers develop a spastic paraparesis secondary to myelopathic changes similar to adrenomyeloneuropathy. Assays of very long chain fatty acids in plasma, cultured chorion villus cells and amniocytes, and mutation analysis permit presymptomatic and prenatal diagnosis, as well as carrier identification. The timely use of these assays is essential for genetic counseling and therapy. Early diagnosis and treatment can prevent overt Addison disease, and significantly reduce the frequency of the severe childhood cerebral phenotype. A promising new method for mass newborn screening has been developed, the implementation of which will have a profound effect on the diagnosis and therapy of X-ALD.
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Elevated levels of C26:0 and the ratios C24:0/C22:0 and C26:0/C22:0 are used for diagnostic purposes in X-ALD from plasma or serum.
“Elevated levels of cerotic acid (C26:0) [overall reference range 0.15–1.9 µmol/l] and the ratios C24:0/C22:0 [0.32–1.19] and C26:0/C22:0 [0.0–0.03] are used for diagnostic purposes (see cutoff level comparison in Table 1 and as previously discussed by Moser et al.9).”
From Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy (2020) · cites this paper as [9]
X-ALD is clinically characterized by two main phenotypes: adrenomyeloneuropathy (AMN) and the cerebral demyelinating form of X-ALD (cerebral ALD).
“X-linked adrenoleukodystrophy (X-ALD) is clinically characterized by two main phenotypes: adrenomyeloneuropathy (AMN) and the cerebral demyelinating form of X-ALD (cerebral ALD) [1,2].”
From X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects (2012) · cites this paper as [2]
AMN is the most frequent phenotype of X-ALD.
“AMN is the most frequent phenotype of X-ALD [1,2].”
From X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects (2012) · cites this paper as [2]
Cites
The metabolic and molecular bases of inherited disease
Chen, Y.-T. (2001) · Medical Entomology and Zoology · Cited by 6,928 · see citing works
Rochester, C. L., & Kradin, R. L. (2000) · New England Journal of Medicine · doi:10.1056/nejm200012213432509 · Cited by 3,875 · see citing works
Perivascular microglial cells of the CNS are bone marrow-derived and present antigen in vivo
Hickey, W. F., & Kimura, H. (1988) · Science · doi:10.1126/science.3276004 · Cited by 1,466 · see citing works
The human ATP-binding cassette (ABC) transporter superfamily
Dean, M., Hamon, Y., & Chimini, G. (2001) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)31588-1 · Cited by 1,302 · see citing works
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
Mosser, J., Douar, A.-M., Sarde, C.-O., Kioschis, P., Feil, R., Moser, H., Poustka, A.-M., Mandel, J.-L., & Aubourg, P. (1993) · Nature · doi:10.1038/361726a0 · Cited by 1,202 · see citing works
Self-citationAdrenoleukodystrophy: A Clinical and Pathological Study of 17 Cases
Schaumburg, H. H. (1975) · Archives of Neurology · doi:10.1001/archneur.1975.00490510033001 · Cited by 475 · see citing works
Qualitative alteration in substrate specificity of mitochondrial monoamine oxidase in brain
Moskvitina, T. A., Kamyshanskaya, N. S., Kaverina, L. P., & Gorkin, V. Z. (1976) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1976.tb04462.x · Cited by 440 · see citing works
Peters, C., Charnas, L. R., Tan, Y., Ziegler, R. S., Shapiro, E. G., DeFor, T., Grewal, S. S., Orchard, P. J., Abel, S. L., Goldman, A. I., et al. (2004) · Blood · doi:10.1182/blood-2003-10-3402 · Cited by 374 · see citing works
Self-citationAubourg, P., Blanche, S., Jambaqué, I., Rocchiccioli, F., Kalifa, G., Naud-Saudreau, C., Rolland, M.-O., Debré, M., Chaussain, J.-L., Griscelli, C., et al. (1990) · New England Journal of Medicine · doi:10.1056/nejm199006283222607 · Cited by 366 · see citing works
Singh, I., Moser, A. E., Goldfischer, S. L., & Moser, H. W. (1984) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.81.13.4203 · Cited by 348 · see citing works
Self-citationKemp, S., Pujol, A., Waterham, H. R., van Geel, B. M., Boehm, C. D., Raymond, G. V., Cutting, G. R., Wanders, R. J. A., & Moser, H. W. (2001) · Human Mutation · doi:10.1002/humu.1227 · Cited by 332 · see citing works
Self-citationShapiro, E., Krivit, W., Lockman, L., Jambaqué, I., Peters, C., Cowan, M., Harris, R., Blanche, S., Bordigoni, P., Loes, D., et al. (2000) · The Lancet · doi:10.1016/s0140-6736(00)02629-5 · Cited by 329 · see citing works
Self-citationAdrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening
Bezman, L., Moser, A. B., Raymond, G. V., Rinaldo, P., Watkins, P. A., Smith, K. D., Kass, N. E., & Moser, H. W. (2001) · Annals of Neurology · doi:10.1002/ana.101 · Cited by 324 · see citing works
Self-citationAdrenoleukodystrophy: a scoring method for brain MR observations.
(1994) · PubMed Central · Cited by 321 · see citing works
Self-citationMigeon, B. R., Moser, H. W., Moser, A. B., Axelman, J., Sillence, D., & Norum, R. A. (1981) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.78.8.5066 · Cited by 283 · see citing works
Self-citationThe gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein
Mosser, J., Lutz, Y., Stoeckel, M. E., Sarde, C. O., Kretz, C., Douar, A. M., Lopez, J., Aubourg, P., & Mandel, J. L. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.2.265 · Cited by 281 · see citing works
Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy
Loes, D. J., Fatemi, A., Melhem, E. R., Gupte, N., Bezman, L., Moser, H. W., & Raymond, G. V. (2003) · Neurology · doi:10.1212/01.wnl.0000079050.91337.83 · Cited by 268 · see citing works
Self-citationPOWERS, J. M., LIU, Y., MOSER, A. B., & MOSER, H. W. (1992) · Journal of Neuropathology and Experimental Neurology · doi:10.1097/00005072-199211000-00007 · Cited by 265 · see citing works
Self-citationGene redundancy and pharmacological gene therapy: Implications for X-linked adrenoleukodystrophy
Kemp, S., Wei, H.-M., Lu, J.-F., Braiterman, L. T., McGuinness, M. C., Moser, A. B., Watkins, P. A., & Smith, K. D. (1998) · Nature Medicine · doi:10.1038/3242 · Cited by 249 · see citing works
A Two-Year Trial of Oleic and Erucic Acids (“Lorenzo's Oil”) as Treatment for Adrenomyeloneuropathy
Aubourg, P., Adamsbaum, C., Lavallard-Rousseau, M.-C., Rocchiccioli, F., Cartier, N., Jambaque, I., Jakobezak, C., Lemaitre, A., Boureau, F., Wolf, C., et al. (1993) · New England Journal of Medicine · doi:10.1056/nejm199309093291101 · Cited by 242 · see citing works
Adrenoleukodystrophy: Phenotypic variability and implications for therapy
Moser, H. W., Moser, A. B., Smith, K. D., Bergin, A., Borel, J., Shankroff, J., Stine, O. C., Merette, C., Ott, J., Krivit, W., et al. (1992) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01799621 · Cited by 239 · see citing works
Self-citationFollow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil
Moser, H. W., Raymond, G. V., Lu, S.-E., Muenz, L. R., Moser, A. B., Xu, J., Jones, R. O., Loes, D. J., Melhem, E. R., Dubey, P., et al. (2005) · Archives of Neurology · doi:10.1001/archneur.62.7.1073 · Cited by 239 · see citing works
Self-citationAdrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening
Bezman, L., Moser, A. B., Raymond, G. V., Watkins, P. A., Smith, K. D., KASS, N. E., & Moser, H. W. (2001) · Annals of Neurology · doi:10.1002/ana.101.abs · Cited by 237 · see citing works
Self-citationSingh, I., Moser, A. E., Moser, H. W., & Kishimoto, Y. (1984) · Pediatric Research · doi:10.1203/00006450-198403000-00016 · Cited by 234 · see citing works
Self-citationGriffin, J. W., Goren, E. N., Schaumburg, H. H., Engel, W. K., & LORIAUX, L. D. (1977) · Neurology · doi:10.1212/wnl.27.12.1107 · Cited by 229 · see citing works
Lazo, O., Contreras, M., Hashmi, M., Stanley, W. S., Irazú, C. E., & Singh, I. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.20.7647 · Cited by 219 · see citing works
Dietary erucic acid therapy for X‐linked adrenoleukodystrophy
Rizzo, W. B., Leshner, R. T., Odone, A., Dammann, A. L., Craft, D. A., Jensen, M. E., Jennings, S. S., Davis, S., Jaitly, R., & Sgro, J. A. (1989) · Neurology · doi:10.1212/wnl.39.11.1415 · Cited by 207 · see citing works
Peroxisomes, lipid metabolism, and peroxisomal disorders
Wanders, R. J. A. (2004) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2004.08.016 · Cited by 205 · see citing works
Adrenomyeloneuropathy: A Neuropathologic Review Featuring Its Noninflammatory Myelopathy
Powers, J. M., DeCiero, D. P., Ito, M., Moser, A. B., & Moser, H. W. (2000) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/59.2.89 · Cited by 204 · see citing works
Self-citationPujol, A., Ferrer, I., Camps, C., Metzger, E., Hindelang, C., Callizot, N., Ruiz, M., Pàmpols, T., Giròs, M., & Mandel, J. L. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh323 · Cited by 201 · see citing works
Ho, J. K., Moser, H., Kishimoto, Y., & Hamilton, J. A. (1995) · Journal of Clinical Investigation · doi:10.1172/jci118182 · Cited by 199 · see citing works
Self-citationAdrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts
Moser, H. W., Moser, A., Kawamura, N., Murphy, J., Suzuki, K., Schaumburg, H., & Kishimoto, Y. (1980) · Annals of Neurology · doi:10.1002/ana.410070607 · Cited by 196 · see citing works
Self-citationX-linked adrenoleukodystrophy: Genes, mutations, and phenotypes
Smith, K. D., Kemp, S., Braiterman, L. T., Lu, J.-F., Wei, H.-M., Geraghty, M., Stetten, G., Bergin, J. S., Pevsner, J., & Watkins, P. A. (1999) · Neurochemical Research · doi:10.1023/a:1022535930009 · Cited by 190 · see citing works
Male Donor-derived Cells in the Brains of Female Sex-mismatched Bone Marrow Transplant Recipients
Unger, E. R., SUNG, J. H., Manivel, J. C., Chenggis, M. L., Blazar, B. R., & Krivit, W. A. (1993) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-199309000-00004 · Cited by 187 · see citing works
Molecular Cloning of cDNA Encoding Rat Very Long-chain Acyl-CoA Synthetase
Uchiyama, A., Aoyama, T., Kamijo, K., Uchida, Y., Kondo, N., Orii, T., & Hashimoto, T. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.48.30360 · Cited by 157 · see citing works
Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry
Valianpour, F., Selhorst, J. J. M., van Lint, L. E. M., van Gennip, A. H., Wanders, R. J. A., & Kemp, S. (2003) · Molecular Genetics and Metabolism · doi:10.1016/s1096-7192(03)00098-2 · Cited by 150 · see citing works
Netik, A., Forss-Petter, S., Holzinger, A., Molzer, B., Unterrainer, G., & Berger, J. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.5.907 · Cited by 148 · see citing works
Role of ALDP (ABCD1) and Mitochondria in X-Linked Adrenoleukodystrophy
McGuinness, M. C., Lu, J.-F., Zhang, H.-P., Dong, G.-X., Heinzer, A. K., Watkins, P. A., Powers, J., & Smith, K. D. (2003) · Molecular and Cellular Biology · doi:10.1128/mcb.23.2.744-753.2003 · Cited by 147 · see citing works
Dubey, P., Raymond, G. V., Moser, A. B., Kharkar, S., Bezman, L., & Moser, H. W. (2005) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2004.10.067 · Cited by 145 · see citing works
Self-citationAdrenoleukodystrophy: New Approaches to a Neurodegenerative Disease
Moser, H. W., Raymond, G. V., & Dubey, P. (2005) · JAMA · doi:10.1001/jama.294.24.3131 · Cited by 142 · see citing works
Self-citationClinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy
Moser, H. W., Moser, A. B., Naidu, S., & Bergin, A. (1991) · Developmental Neuroscience · doi:10.1159/000112170 · Cited by 139 · see citing works
Self-citationvan Geel, B. M., Assies, J., Haverkort, E. B., Koelman, J. H. T. M., Verbeeten, B., Wanders, R. J. A., & Barth, P. G. (1999) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.67.3.290 · Cited by 131 · see citing works
Adreno-leukodystrophy: Oxidative Stress of Mice and Men
Powers, J. M., Pei, Z., Heinzer, A. K., Brose, R. D., Moser, A. B., Moser, H. W., Watkins, P. A., & Smith, K. D. (2005) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/01.jnen.0000190064.28559.a4 · Cited by 129 · see citing works
Self-citationIto, M., Blumberg, B. M., Mock, D. J., Goodman, A. D., Moser, A. B., Moser, H. W., Smith, K. D., & Powers, J. M. (2001) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/60.10.1004 · Cited by 125 · see citing works
Self-citationPaintlia, A. S., Gilg, A. G., Khan, M., Singh, A. K., Barbosa, E., & Singh, I. (2003) · Neurobiology of Disease · doi:10.1016/j.nbd.2003.08.013 · Cited by 120 · see citing works
Adrenoleukodystrophy: correlating MR imaging with CT.
Kumar, A. J., Rosenbaum, A. E., Naidu, S., Wener, L., Citrin, C. M., Lindenberg, R., Kim, W. S., Zinreich, S. J., Molliver, M. E., & Mayberg, H. S. (1987) · Radiology · doi:10.1148/radiology.165.2.3659373 · Cited by 120 · see citing works
Spastic paraplegia associated with Addison’s disease: Adult variant of adreno-leukodystrophy
Budka, H., Sluga, E., & Heiss, W.-D. (1976) · Journal of Neurology · doi:10.1007/bf00312873 · Cited by 115 · see citing works
Evidence that oxidative stress is increased in patients with X-linked adrenoleukodystrophy
Vargas, C. R., Wajner, M., Sirtori, L. R., Goulart, L. D. S., Chiochetta, M., Coelho, D. M., Latini, A., Llesuy, S., Belló‐Klein, A., Giugliani, R., et al. (2003) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2003.10.004 · Cited by 114 · see citing works
Interactions of very long-chain saturated fatty acids with serum albumin
Choi, J., Ho, J., Curry, S., Qin, D., Bittman, R., & Hamilton, J. A. (2002) · Journal of Lipid Research · doi:10.1194/jlr.m200041-jlr200 · Cited by 114 · see citing works
Accurate DNA-Based Diagnostic and Carrier Testing for X-Linked Adrenoleukodystrophy
Boehm, C. D., Cutting, G. R., Lachtermacher, M. B., Moser, H. W., & Chong, S. S. (1999) · Molecular Genetics and Metabolism · doi:10.1006/mgme.1998.2779 · Cited by 112 · see citing works
Self-citationThe peroxisomal ABC transporter family
Wanders, R. J. A., Visser, W. F., van Roermund, C. W. T., Kemp, S., & Waterham, H. R. (2006) · Pflügers Archiv - European Journal of Physiology · doi:10.1007/s00424-006-0142-x · Cited by 111 · see citing works
HUBBARD, W., MOSER, A., TORTORELLI, S., LIU, A., JONES, D., & MOSER, H. (2006) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2006.05.001 · Cited by 108 · see citing works
Self-citationProton MR spectroscopic imaging predicts lesion progression on MRI in X-linked adrenoleukodystrophy
Eichler, F., Barker, P. B., Cox, C., Edwin, D. H., Uluğ, A. M., Moser, H. W., & Raymond, G. V. (2002) · Neurology · doi:10.1212/wnl.58.6.901 · Cited by 100 · see citing works
Self-citationIdentification of female carriers of adrenoleukodystrophy
Moser, H. W., Moser, A. E., Trojak, J. E., & Supplee, S. W. (1983) · The Journal of Pediatrics · doi:10.1016/s0022-3476(83)80775-6 · Cited by 99 · see citing works
Self-citationTheda, C., Moser, A. B., Powers, J. M., & Moser, H. W. (1992) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(92)90028-j · Cited by 99 · see citing works
Self-citationElongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy
Kemp, S., Valianpour, F., Denis, S., Ofman, R., Sanders, R.-J., Mooyer, P., Barth, P. G., & Wanders, R. J. A. (2005) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2004.09.015 · Cited by 97 · see citing works
Tsuji, S., Suzuki, M., Ariga, T., Sekine, M., Kuriyama, M., & Miyatake, T. (1981) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1981.tb01698.x · Cited by 96 · see citing works
The Dorsal Root Ganglia in Adrenomyeloneuropathy: Neuronal Atrophy and Abnormal Mitochondria
Powers, J. M., Deciero, D. P., Cox, C., Richfield, E. K., Ito, M., Moser, A. B., & Moser, H. W. (2001) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/60.5.493 · Cited by 96 · see citing works
Self-citationAssessment of adrenoleukodystrophy lesions by high field MRS in non-sedated pediatric patients
Öz, G., Tkáč, I., Charnas, L. R., Choi, I., Bjoraker, K., Shapiro, E., & Rolf Gruetter, A. (2005) · Neurology · doi:10.1212/01.wnl.0000150906.52208.e7 · Cited by 95 · see citing works
Moser, H. W., Moser, A. B., Powers, J. M., Nitowsky, H. M., Schaumburg, H. H., Norum, R. A., & Migeon, B. R. (1982) · Pediatric Research · doi:10.1203/00006450-198203000-00002 · Cited by 86 · see citing works
Self-citationTroffer-Charlier, N., Doerflinger, N., Metzger, E., Fouquet, F., Mandel, J.-L., & Aubourg, P. (1998) · European Journal of Cell Biology · doi:10.1016/s0171-9335(98)80121-0 · Cited by 85 · see citing works
The molecular basis of CD 1 ‐mediated presentation of Iipid antigens
Moody, D. B., Besra, G. S., Wilson, I. A., & Porceili, S. A. (1999) · Immunological Reviews · doi:10.1111/j.1600-065x.1999.tb01373.x · Cited by 85 · see citing works
Brain gangliosides in adrenoleukodystrophy1
Igarashi, M., Belchjs, D., & Suzuki, K. (1976) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1976.tb01593.x · Cited by 81 · see citing works
Koelman (1996) · doi:10.1212/wnl.46.1.112 · Cited by 78 · see citing works
Nerve conduction studies in adrenomyeloneuropathy
Chaudhry, V, Moser, H. W., & Cornblath, D. R. (1996) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.61.2.181 · Cited by 73 · see citing works
Self-citationTSUJI, S., SANO, T., ARIGA, T., & MIYATAKE, T. (1981) · The Journal of Biochemistry · doi:10.1093/oxfordjournals.jbchem.a133578 · Cited by 73 · see citing works
MRI and proton MRSI in women heterozygous for X-linked adrenoleukodystrophy
Fatemi, A. S., Barker, P. B., Uluğ, A. M., Nagae‐Poetscher, L. M., Beauchamp, N. J., Moser, A. B., Raymond, G. V., Moser, H. W., & Naidu, S. (2003) · Neurology · doi:10.1212/01.wnl.0000059546.15529.cb · Cited by 71 · see citing works
Self-citationPai, G. S., Khan, M., Barbosa, E., Key, L. L., Craver, J. R., Curé, J. K., Betros, R., & Singh, I. (2000) · Molecular Genetics and Metabolism · doi:10.1006/mgme.2000.2977 · Cited by 70 · see citing works
Peroxisomal β‐Oxidation: Enzymology and Molecular Biologya
Hashimoto, T. (1996) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1996.tb18610.x · Cited by 66 · see citing works
Gilg, A. G., Singh, A. K., & Singh, I. (2000) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/59.12.1063 · Cited by 66 · see citing works
Experience on Therapy of Adrenoleukodystrophy and Adrenomyeloneuropathy
Uziel, G., Bertini, E., Bardelli, P., Rimoldi, M., & Gambetti, M. (1991) · Developmental Neuroscience · doi:10.1159/000112173 · Cited by 65 · see citing works
Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy
Fatemi, A., Smith, S. A., Dubey, P., Zackowski, K. M., Bastian, A. J., van Zijl, P. C., Moser, H. W., Raymond, G. V., & Golay, X. (2005) · Neurology · doi:10.1212/01.wnl.0000164458.02141.06 · Cited by 64 · see citing works
Self-citationPoulos, A., Singh, H., Paton, B. C., Sharp, P. C., & Derwas, N. (1986) · Clinical Genetics · doi:10.1111/j.1399-0004.1986.tb00511.x · Cited by 63 · see citing works
Benhamida, S., Pflumio, F., Dubart-Kupperschmitt, A., Zhao-Emonet, J.-C., Cavazzana-Calvo, M., Rocchiccioli, F., Fichelson, S., Aubourg, P., Charneau, P., & Cartier, N. (2003) · Molecular Therapy · doi:10.1016/s1525-0016(03)00002-9 · Cited by 61 · see citing works
Fatty Acid Composition of Human Myelin Proteolipid Protein in Peroxisomal Disorders
Bizzozero, O. A., Zuñiga, G., & Lees, M. B. (1991) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1991.tb02003.x · Cited by 61 · see citing works
Wanders, R. J. A., van Roermund, C. W. T., van Wijland, M. J. A., Heikoop, J., Schutgens, R. B. H., Schram, A. W., Tager, J. M., van den Bosch, H., Poll-Thé, B. T., Saudubray, J. M., et al. (1987) · Clinica Chimica Acta · doi:10.1016/0009-8981(87)90428-1 · Cited by 58 · see citing works
Self-citationRestuccia, D. (1997) · Brain · doi:10.1093/brain/120.7.1139 · Cited by 53 · see citing works
Assessment of Adrenal Function in Women Heterozygous for Adrenoleukodystrophy1
El-Deiry, S. S., Naidu, S., Blevins, L. S., & Ladenson, P. W. (1997) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.82.3.3802 · Cited by 53 · see citing works
Spectroscopic evidence of cerebral axonopathy in patients with “pure” adrenomyeloneuropathy
Dubey, P., Fatemi, A. S., Barker, P. B., Degaonkar, M. N., Tröger, M., Zackowski, K. M., Bastian, A. J., Smith, S. A., Pomper, M. G., Moser, H. W., et al. (2005) · Neurology · doi:10.1212/01.wnl.0000149514.13580.84 · Cited by 45 · see citing works
Self-citationThyroid Hormone Induction of the Adrenoleukodystrophy-Related Gene (ABCD2)
Fourcade, S., Savary, S., Gondcaille, C., Berger, J., Netik, A., Cadepond, F., El‐Etr, M., Molzer, B., & Bugaut, M. (2003) · Molecular Pharmacology · doi:10.1124/mol.63.6.1296 · Cited by 41 · see citing works
Diffusion tensor–based imaging reveals occult abnormalities in adrenomyeloneuropathy
Dubey, P., Fatemi, A., Huang, H., Nagae‐Poetscher, L., Wakana, S., Barker, P. B., van Zijl, P., Moser, H. W., Mori, S., & Raymond, G. V. (2005) · Annals of Neurology · doi:10.1002/ana.20643 · Cited by 40 · see citing works
Self-citationOezen, I., Rossmanith, W., Forss‐Petter, S., Kemp, S., Voigtländer, T., Moser-Thier, K., Wanders, R. J. A., Bittner, R. E., & Berger, J. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi125 · Cited by 37 · see citing works
Wanders, R. J. A., van Roermund, C. W. T., van Wijland, M. J. A., Schutgens, R. B. H., Schram, A. W., Tager, J. M., van den BOSCH, H., & Schalkwijk, C. (1988) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01804228 · Cited by 34 · see citing works
Cognitive Evaluation of Neurologically Asymptomatic Boys With X-linked Adrenoleukodystrophy
Cox, C., Dubey, P., Raymond, G. V., Mahmood, A., Moser, A. B., & Moser, H. W. (2006) · Archives of Neurology · doi:10.1001/archneur.63.1.69 · Cited by 33 · see citing works
Self-citationX-linked adrenoleukodystrophy in patients with idiopathic Addison disease
Jorge, P., Quelhas, D., Oliveira, P., Pinto, R. A., & Nogueira, A. (1994) · European Journal of Pediatrics · doi:10.1007/bf02190668 · Cited by 31 · see citing works
The correlation between biochemical and histopathological findings in adrenoleukodystrophy
Reinecke, C. J., Knoll, D. P., Pretorius, P. J., Steyn, H. S., & Simpson, R. H. W. (1985) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(85)90184-4 · Cited by 29 · see citing works
Pathologic findings in adrenoleukodystrophy heterozygotes.
Powers, J. M., Moser, H. W., Ab, M., Ck, M., Elias, S. B., & Norum, R. A. (1987) · PubMed · Cited by 26 · see citing works
Self-citationDi Biase, A., Di Benedetto, R., Fiorentini, C., Travaglione, S., Salvati, S., Attorri, L., & Pietraforte, D. (2004) · Neurochemistry International · doi:10.1016/s0197-0186(03)00162-1 · Cited by 24 · see citing works
Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy
Linnebank, M., Kemp, S., Wanders, R. J. A., Kleijer, W. J., van der Sterre, M. L. T., Gärtner, J., Fliessbach, K., Semmler, A., Sokolowski, P., Köhler, W., et al. (2006) · Neurology · doi:10.1212/01.wnl.0000196491.42058.6f · Cited by 22 · see citing works
Immunoablation does not delay the neurologic progression of X-linked adrenoleukodystrophy
Nowaczyk, M. G. J. M., Saunders, E. F., Tein, I., Blasér, S., & Clarke, J. T. R. (1997) · The Journal of Pediatrics · doi:10.1016/s0022-3476(97)80076-5 · Cited by 20 · see citing works
Braiterman, L. T., Watkins, P. A., Moser, A. B., & Smith, K. D. (1999) · Molecular Genetics and Metabolism · doi:10.1006/mgme.1998.2789 · Cited by 19 · see citing works
Adrenoleukodystrophy And Other Peroxisomal Disorders
Moser, H. W., & Brereton, N. H. (2005) · doi:10.1093/oso/9780195165647.003.0045 · Cited by 13 · see citing works
Self-citationBiochemical effect of intravenous arginine butyrate in x-linked adrenoleukodystrophy
McGovern, M. M., Wasserstein, M., Aron, A. M., & Perrine, S. P. (2003) · The Journal of Pediatrics · doi:10.1067/mpd.2003.201 · Cited by 10 · see citing works
Clinical and electrophysiological improvement of adrenomyeloneuropathy with steroid treatment
Zhang, L. X. (2003) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.74.6.822 · Cited by 9 · see citing works
Role for peroxisome proliferator-activated receptor-gamma in Alzheimer's disease.
van Geel (2001) · Open Repository and Bibliography (University of Luxembourg) · doi:10.1002/1531-8249(20010201)49:2 · Cited by 7 · see citing works
Self-citation'Identical' twins with discordant karyotypes
(1999) · Pure Amsterdam UMC · doi:10.1002/(sici)1097-0223(199901)19:1 · Cited by 1 · see citing works
Self-citationIncreased activity of surviving locus ceruleus neurons in Alzheimer's disease
Moser (1999) · Pure Amsterdam UMC · doi:10.1002/1531-8249(199901)45:1
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Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy
Cartier, N., Hacein-Bey-Abina, S., Bartholomae, C. C., Veres, G., Schmidt, M., Kutschera, I., Vidaud, M., Abel, U., Dal-Cortivo, L., Caccavelli, L., et al. (2009) · Science · doi:10.1126/science.1171242 · Cited by 1,508 · see citing works
Engelen, M., Kemp, S., de Visser, M., van Geel, B. M., Wanders, R. J., Aubourg, P., & Poll-The, B. (2012) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-7-51 · Cited by 562 · see citing works
Miller, D. T., Lee, K., Chung, W. K., GORDON, A. S., Herman, G. E., Klein, T. E., Stewart, D. R., Amendola, L. M., Adelman, K., Bale, S. J., et al. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01172-3 · Cited by 538 · see citing works
Plant ATP-Binding Cassette Transporters
Rea, P. A. (2007) · Annual Review of Plant Biology · doi:10.1146/annurev.arplant.57.032905.105406 · Cited by 513 · see citing works
Schmahmann, J. D., Smith, E. E., Eichler, F., & Filley, C. M. (2008) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1444.017 · Cited by 492 · see citing works
Adibhatla, R. M., & Hatcher, J. F. (2010) · Antioxidants & Redox Signaling · doi:10.1089/ars.2009.2668 · Cited by 480 · see citing works
Fatty acids as modulators of the cellular production of reactive oxygen species
Schönfeld, P., & Wojtczak, L. (2008) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2008.04.029 · Cited by 441 · see citing works
Peters, C., Charnas, L. R., Tan, Y., Ziegler, R. S., Shapiro, E. G., DeFor, T., Grewal, S. S., Orchard, P. J., Abel, S. L., Goldman, A. I., et al. (2004) · Blood · doi:10.1182/blood-2003-10-3402 · Cited by 374 · see citing works
Self-citationChemotherapy-induced resistance by ATP-binding cassette transporter genes
Gillet, J. A., Efferth, T., & Remacle, J. (2007) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/j.bbcan.2007.05.002 · Cited by 336 · see citing works
Kemp, S., Pujol, A., Waterham, H. R., van Geel, B. M., Boehm, C. D., Raymond, G. V., Cutting, G. R., Wanders, R. J. A., & Moser, H. W. (2001) · Human Mutation · doi:10.1002/humu.1227 · Cited by 332 · see citing works
Self-citationPlasmalogens the neglected regulatory and scavenging lipid species
Wallner, S., & Schmitz, G. (2011) · Chemistry and Physics of Lipids · doi:10.1016/j.chemphyslip.2011.06.008 · Cited by 328 · see citing works
Peters, C., Steward, C. G., & on behalf of the NMDP, I. (2003) · Bone Marrow Transplantation · doi:10.1038/sj.bmt.1703839 · Cited by 312 · see citing works
X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects
Kemp, S., Berger, J., & Aubourg, P. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2012.03.012 · Cited by 283 · see citing works
Miller, W. P., Rothman, S. M., Nascene, D., Kivisto, T., DeFor, T. E., Ziegler, R. S., Eisengart, J., Leiser, K., Raymond, G., Lund, T. C., et al. (2011) · Blood · doi:10.1182/blood-2011-01-329235 · Cited by 290 · see citing works
Self-citationPeroxisomal disorders: The single peroxisomal enzyme deficiencies
Wanders, R. J. A., & Waterham, H. R. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2006.08.010 · Cited by 279 · see citing works
Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy
Loes, D. J., Fatemi, A., Melhem, E. R., Gupte, N., Bezman, L., Moser, H. W., & Raymond, G. V. (2003) · Neurology · doi:10.1212/01.wnl.0000079050.91337.83 · Cited by 268 · see citing works
Self-citationPathophysiology of X-linked adrenoleukodystrophy
Berger, J., Forss-Petter, S., & Eichler, F. S. (2014) · Biochimie · doi:10.1016/j.biochi.2013.11.023 · Cited by 238 · see citing works
Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil
Moser, H. W., Raymond, G. V., Lu, S.-E., Muenz, L. R., Moser, A. B., Xu, J., Jones, R. O., Loes, D. J., Melhem, E. R., Dubey, P., et al. (2005) · Archives of Neurology · doi:10.1001/archneur.62.7.1073 · Cited by 239 · see citing works
Self-citationAdrenoleukodystrophy: Phenotypic variability and implications for therapy
Moser, H. W., Moser, A. B., Smith, K. D., Bergin, A., Borel, J., Shankroff, J., Stine, O. C., Merette, C., Ott, J., Krivit, W., et al. (1992) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01799621 · Cited by 239 · see citing works
Self-citationPujol, A. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.5.499 · Cited by 214 · see citing works
Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy
Fourcade, S., Lopez-Erauskin, J., Galino, J., Duval, C., Naudi, A., Jove, M., Kemp, S., Villarroya, F., Ferrer, I., Pamplona, R., et al. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn085 · Cited by 214 · see citing works
Turk, B., Theda, C., Fatemi, A., & Moser, A. (2019) · International Journal of Developmental Neuroscience · doi:10.1002/jdn.10003 · Cited by 132 · see citing works
Pujol, A., Ferrer, I., Camps, C., Metzger, E., Hindelang, C., Callizot, N., Ruiz, M., Pàmpols, T., Giròs, M., & Mandel, J. L. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh323 · Cited by 201 · see citing works
Adrenomyeloneuropathy: A Neuropathologic Review Featuring Its Noninflammatory Myelopathy
Powers, J. M., DeCiero, D. P., Ito, M., Moser, A. B., & Moser, H. W. (2000) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/59.2.89 · Cited by 204 · see citing works
Self-citationPeroxisome Biogenesis Disorders
Grønborg, S. W., Gould, S. J., & Valle, D. L. (2003) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.4.070802.110424 · Cited by 203 · see citing works
X-linked adrenoleukodystrophy: Clinical, biochemical and pathogenetic aspects
Berger, J., & Gärtner, J. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2006.07.010 · Cited by 199 · see citing works
Mahmood, A., Raymond, G. V., Dubey, P., Peters, C., & Moser, H. W. (2007) · The Lancet Neurology · doi:10.1016/s1474-4422(07)70177-1 · Cited by 193 · see citing works
Self-citationX-Linked Adrenoleukodystrophy: Pathogenesis and Treatment
Engelen, M., Kemp, S., & Poll-The, B.-T. (2014) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-014-0486-0 · Cited by 187 · see citing works
Hargrove, J. L., Greenspan, P., & Hartle, D. K. (2004) · Experimental Biology and Medicine · doi:10.1177/153537020422900301 · Cited by 183 · see citing works
The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy
Ofman, R., Dijkstra, I. M. E., van Roermund, C. W. T., Burger, N., Turkenburg, M., van Cruchten, A., van Engen, C. E., Wanders, R. J. A., & Kemp, S. (2010) · EMBO Molecular Medicine · doi:10.1002/emmm.201000061 · Cited by 170 · see citing works
Jang, J., Park, S., Hur, H., Cho, H., Hwang, I., Kang, Y. P., Im, I., Lee, H., Lee, E., Yang, W., et al. (2016) · Nature Communications · doi:10.1038/ncomms13129 · Cited by 171 · see citing works
Peroxisomes, lipid metabolism and lipotoxicity
Wanders, R. J. A., Ferdinandusse, S., Brites, P., & Kemp, S. (2010) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2010.01.001 · Cited by 169 · see citing works
PEX11β Deficiency Is Lethal and Impairs Neuronal Migration but Does Not Abrogate Peroxisome Function
Li, X., Baumgart, E., Morrell, J. C., Jimenez-Sanchez, G., Valle, D., & Gould, S. J. (2002) · Molecular and Cellular Biology · doi:10.1128/mcb.22.12.4358-4365.2002 · Cited by 165 · see citing works
The approach to the adult with newly diagnosed adrenal insufficiency
Arlt, W. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-0032 · Cited by 165 · see citing works
Marquez, B., & Françoise Van Bambeke, A. (2011) · Current Drug Targets · doi:10.2174/138945011795378504 · Cited by 165 · see citing works
X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy
van Geel, B. M., Assies, J., Wanders, R. J. A., & Barth, P. G. (1997) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.63.1.4 · Cited by 162 · see citing works
Netik, A., Forss-Petter, S., Holzinger, A., Molzer, B., Unterrainer, G., & Berger, J. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.5.907 · Cited by 148 · see citing works
Role of very-long-chain fatty acids in plant development, when chain length does matter
Bach, L., & Faure, J. (2010) · Comptes Rendus Biologies · doi:10.1016/j.crvi.2010.01.014 · Cited by 154 · see citing works
Diverse relations between ABC transporters and lipids: An overview
Neumann, J., Rose-Sperling, D., & Hellmich, U. A. (2016) · Biochimica et Biophysica Acta (BBA) - Biomembranes · doi:10.1016/j.bbamem.2016.09.023 · Cited by 150 · see citing works
Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry
Valianpour, F., Selhorst, J. J. M., van Lint, L. E. M., van Gennip, A. H., Wanders, R. J. A., & Kemp, S. (2003) · Molecular Genetics and Metabolism · doi:10.1016/s1096-7192(03)00098-2 · Cited by 150 · see citing works
Pathomechanisms underlying X-adrenoleukodystrophy: A three-hit hypothesis
Singh, I., & Pujol, A. (2010) · Brain Pathology · doi:10.1111/j.1750-3639.2010.00392.x · Cited by 148 · see citing works
Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy
Duncan, C., Bledsoe, J. R., Grzywacz, B. J., Beckman, A., Bonner, M. A., Eichler, F., Kühl, J., Harris, M. H., Slauson, S. R., Colvin, R. A., et al. (2024) · New England Journal of Medicine · doi:10.1056/nejmoa2405541 · Cited by 156 · see citing works
Role of ALDP (ABCD1) and Mitochondria in X-Linked Adrenoleukodystrophy
McGuinness, M. C., Lu, J.-F., Zhang, H.-P., Dong, G.-X., Heinzer, A. K., Watkins, P. A., Powers, J., & Smith, K. D. (2003) · Molecular and Cellular Biology · doi:10.1128/mcb.23.2.744-753.2003 · Cited by 147 · see citing works
Huffnagel, I. C., Laheji, F. K., Aziz-Bose, R., Tritos, N. A., Marino, R., Linthorst, G. E., Kemp, S., Engelen, M., & Eichler, F. (2019) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-01307 · Cited by 147 · see citing works
Adrenoleukodystrophy: New Approaches to a Neurodegenerative Disease
Moser, H. W., Raymond, G. V., & Dubey, P. (2005) · JAMA · doi:10.1001/jama.294.24.3131 · Cited by 142 · see citing works
Self-citationDubey, P., Raymond, G. V., Moser, A. B., Kharkar, S., Bezman, L., & Moser, H. W. (2005) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2004.10.067 · Cited by 145 · see citing works
Self-citationClinical assessment and diagnosis of adults with attention-deficit/hyperactivity disorder
Haavik, J., Halmøy, A., Lundervold, A. J., & Fasmer, O. B. (2010) · Expert Review of Neurotherapeutics · doi:10.1586/ern.10.149 · Cited by 142 · see citing works
Expanded newborn screening by mass spectrometry: New tests, future perspectives
Ombrone, D., Giocaliere, E., Forni, G., Malvagia, S., & la Marca, G. (2015) · Mass Spectrometry Reviews · doi:10.1002/mas.21463 · Cited by 140 · see citing works
Raymond, G. V., Aubourg, P., Paker, A., Escolar, M., Fischer, A., Blanche, S., Baruchel, A., Dalle, J.-H., Michel, G., Prasad, V., et al. (2019) · Biology of Blood and Marrow Transplantation · doi:10.1016/j.bbmt.2018.09.036 · Cited by 142 · see citing works
Self-citationFatty Acid Transport: The Diffusion Mechanism in Model and Biological Membranes
Hamilton, J. A., Johnson, R. A., Corkey, B. E., & Kamp, F. (2001) · Journal of Molecular Neuroscience · doi:10.1385/jmn:16:2-3:99 · Cited by 140 · see citing works
Metabolic control of peroxisome abundance
Chang, C., South, S. T., Warren, D., Jones, J. M., Moser, A. B., Moser, H. W., & Gould, S. J. (1999) · Journal of Cell Science · doi:10.1242/jcs.112.10.1579 · Cited by 139 · see citing works
Self-citationBerger, J., Wiesinger, C., & Eichler, F. (2015) · The Application of Clinical Genetics · doi:10.2147/tacg.s49590 · Cited by 140 · see citing works
General aspects and neuropathology of X-linked adrenoleukodystrophy
Ferrer, I., Aubourg, P., & Pujol, A. (2010) · Brain Pathology · doi:10.1111/j.1750-3639.2010.00390.x · Cited by 139 · see citing works
The role of microglia in human disease: therapeutic tool or target?
Cartier, N., Lewis, C.-A. B., Zhang, R., & Rossi, F. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1330-y · Cited by 130 · see citing works
Antioxidants halt axonal degeneration in a mouse model of X‐adrenoleukodystrophy
López‐Erauskin, J., Fourcade, S., Galino, J., Ruíz, M., Schlüter, A., Naudí, A., Jové, M., Portero‐Otín, M., Pamplona, R., Ferrer, I., et al. (2011) · Annals of Neurology · doi:10.1002/ana.22363 · Cited by 135 · see citing works
MR findings in adult-onset adrenoleukodystrophy.
Kumar, A. J., Köhler, W., Kruse, B., Naidu, S., Bergin, A. M. R., Edwin, D. H., & Moser, H. W. (1995) · PubMed Central · Cited by 130 · see citing works
Self-citationPresentation of primary adrenal insufficiency in childhood
Hsieh, S., & White, P. C. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-0015 · Cited by 131 · see citing works
Spranger, S., Spranger, M., Tasman, A., Reith, W., Voigtländer, T., & Voigtländer, V. (1997) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19970905)71:4 · Cited by 19 · see citing works
van Geel, B. M., Assies, J., Haverkort, E. B., Koelman, J. H. T. M., Verbeeten, B., Wanders, R. J. A., & Barth, P. G. (1999) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.67.3.290 · Cited by 131 · see citing works
THE GENETICS OF PEROXISOME BIOGENESIS
Sacksteder, K. A., & Gould, S. J. (2000) · Annual Review of Genetics · doi:10.1146/annurev.genet.34.1.623 · Cited by 130 · see citing works
Adreno-leukodystrophy: Oxidative Stress of Mice and Men
Powers, J. M., Pei, Z., Heinzer, A. K., Brose, R. D., Moser, A. B., Moser, H. W., Watkins, P. A., & Smith, K. D. (2005) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/01.jnen.0000190064.28559.a4 · Cited by 129 · see citing works
Self-citationLópez-Erauskin, J., Galino, J., Ruiz, M., Cuezva, J. M., Fabregat, I., Cacabelos, D., Boada, J., Martínez, J., Ferrer, I., Pamplona, R., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt186 · Cited by 125 · see citing works
Lentiviral Hematopoietic Cell Gene Therapy for X-Linked Adrenoleukodystrophy
Cartier, N., Hacein-Bey-Abina, S., Bartholomae, C. C., Bougnères, P., Schmidt, M., Von Kalle, C., Fischer, A., Cavazzana-Calvo, M., & Aubourg, P. (2012) · Methods in Enzymology · doi:10.1016/b978-0-12-386509-0.00010-7 · Cited by 123 · see citing works
Boelens, J. J., Prasad, V. K., Tolar, J., Wynn, R. F., & Peters, C. (2010) · Pediatric Clinics of North America · doi:10.1016/j.pcl.2009.11.004 · Cited by 121 · see citing works
Peroxisome biogenesis disorders
Argyriou, C., D’Agostino, D., & Braverman, N. (2016) · Translational Science of Rare Diseases · doi:10.3233/trd-160003 · Cited by 126 · see citing works
Kemp, S., Theodoulou, F. L., & Wanders, R. J. (2011) · British Journal of Pharmacology · doi:10.1111/j.1476-5381.2011.01435.x · Cited by 115 · see citing works
Stem cell gene therapy: the risks of insertional mutagenesis and approaches to minimize genotoxicity
Wu, C., & Dunbar, C. E. (2011) · Frontiers of Medicine · doi:10.1007/s11684-011-0159-1 · Cited by 114 · see citing works
Plasmalogens participate in very-long-chain fatty acid-induced pathology
Brites, P., Mooyer, P. A. W., el Mrabet, L., Waterham, H. R., & Wanders, R. J. A. (2008) · Brain · doi:10.1093/brain/awn295 · Cited by 112 · see citing works
Mechanisms of Oxidative Damage in Multiple Sclerosis and a Cell Therapy Approach to Treatment
Witherick, J., Wilkins, A., Scolding, N., & Kemp, K. (2010) · Autoimmune Diseases · doi:10.4061/2011/164608 · Cited by 113 · see citing works
Fatty Acids - Induced Lipotoxicity and Inflammation
Savary, S., Trompier, D., Andreoletti, P., Le Borgne, F., Demarquoy, J., & Lizard, G. (2012) · Current Drug Metabolism · doi:10.2174/138920012803762729 · Cited by 111 · see citing works
The peroxisomal ABC transporter family
Wanders, R. J. A., Visser, W. F., van Roermund, C. W. T., Kemp, S., & Waterham, H. R. (2006) · Pflügers Archiv - European Journal of Physiology · doi:10.1007/s00424-006-0142-x · Cited by 111 · see citing works
Trends in haematopoietic cell transplantation for inborn errors of metabolism
Boelens, J. J. (2006) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-005-0258-8 · Cited by 110 · see citing works
Induced pluripotent stem cell models from X-linked adrenoleukodystrophy patients
Jang, J., Kang, H., Kim, H., Kim, J. Y., Huh, Y. J., Kim, D., Yoo, J., Lee, J., Lim, B., Lee, J., et al. (2011) · Annals of Neurology · doi:10.1002/ana.22486 · Cited by 109 · see citing works
Kemper, A. R., Brosco, J., Comeau, A. M., Green, N. S., Grosse, S. D., Jones, E., Kwon, J. M., Lam, W. K. K., Ojodu, J., Prosser, L. A., et al. (2017) · Genetics in Medicine · doi:10.1038/gim.2016.68 · Cited by 109 · see citing works
Clinical Gene Therapy for Neurodegenerative Diseases: Past, Present, and Future
Piguet, F., Alves, S., & Cartier, N. (2017) · Human Gene Therapy · doi:10.1089/hum.2017.160 · Cited by 109 · see citing works
The Mousetrap: What We Can Learn When the Mouse Model Does Not Mimic the Human Disease
Elsea, S. H., & Lucas, R. E. (2002) · ILAR Journal · doi:10.1093/ilar.43.2.66 · Cited by 108 · see citing works
Identical mutations and phenotypic variation
Wolf, U. (1997) · Human Genetics · doi:10.1007/s004390050509 · Cited by 104 · see citing works
Newborn Screening for X-Linked Adrenoleukodystrophy
Moser, A., Jones, R., Hubbard, W., Tortorelli, S., Orsini, J., Caggana, M., Vogel, B., & Raymond, G. (2016) · International Journal of Neonatal Screening · doi:10.3390/ijns2040015 · Cited by 106 · see citing works
Self-citationLaureti, S., Casucci, G., Santeusanio, F., Angeletti, G., Aubourg, P., & Brunetti, P. (1996) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.81.2.8636252 · Cited by 101 · see citing works
Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy
Fourcade, S., Ruíz, M., Guilera, C., Hahnen, E., Brichta, L., Naudí, A., Portero‐Otín, M., Dacremont, G., Cartier, N., Wanders, R. J. A., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq082 · Cited by 100 · see citing works
Theda, C., Moser, A. B., Powers, J. M., & Moser, H. W. (1992) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(92)90028-j · Cited by 99 · see citing works
Self-citationUpdate on genetic disorders affecting white matter
Kaye, E. M. (2001) · Pediatric Neurology · doi:10.1016/s0887-8994(00)00232-0 · Cited by 97 · see citing works
Costello, D. J., Eichler, A. F., & Eichler, F. (2009) · The Neurologist · doi:10.1097/nrl.0b013e3181b287c8 · Cited by 96 · see citing works
Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy
Kemp, S., Valianpour, F., Denis, S., Ofman, R., Sanders, R.-J., Mooyer, P., Barth, P. G., & Wanders, R. J. A. (2005) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2004.09.015 · Cited by 97 · see citing works
Assessment of adrenoleukodystrophy lesions by high field MRS in non-sedated pediatric patients
Öz, G., Tkáč, I., Charnas, L. R., Choi, I., Bjoraker, K., Shapiro, E., & Rolf Gruetter, A. (2005) · Neurology · doi:10.1212/01.wnl.0000150906.52208.e7 · Cited by 95 · see citing works
Frequent occurrence of cerebral demyelination in adrenomyeloneuropathy
de Beer, M., Engelen, M., & van Geel, B. M. (2014) · Neurology · doi:10.1212/wnl.0000000000001074 · Cited by 97 · see citing works
A practical approach to diagnosing adult onset leukodystrophies
Ahmed, R. M., Murphy, E., Davagnanam, I., Parton, M. J., Schott, J. M., Mummery, C. J., Rohrer, J. D., Lachmann, R., Houlden, H., Fox, N. C., et al. (2013) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2013-305888 · Cited by 95 · see citing works
Gene therapy for leukodystrophies
Biffi, A., Aubourg, P. R., & Cartier, N. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr142 · Cited by 95 · see citing works
Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy
Eichler, F., Duncan, C., Musolino, P. L., Lund, T. C., Gupta, A. O., Oliveira, S. N. D., Thrasher, A. J., Aubourg, P. R., Kühl, J., Loes, D. J., et al. (2024) · New England Journal of Medicine · doi:10.1056/nejmoa2400442 · Cited by 94 · see citing works
Pathologic role of glial nitric oxide in adult and pediatric neuroinflammatory diseases
Ghasemi, M., & Fatemi, A. S. (2014) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2014.06.002 · Cited by 95 · see citing works
Current and Future Pharmacological Treatment Strategies in X‐Linked Adrenoleukodystrophy
Berger, J., Pujol, A., Aubourg, P. R., & Forss‐Petter, S. (2010) · Brain Pathology · doi:10.1111/j.1750-3639.2010.00393.x · Cited by 90 · see citing works
Head trauma can initiate the onset of adreno-leukodystrophy
Raymond, G. V., Seidman, R., Monteith, T. S., Kolodny, E., Sathe, S., Mahmood, A., & Powers, J. M. (2010) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2009.11.005 · Cited by 90 · see citing works
Self-citationMcGuinness, M. C., Powers, J. M., Bias, W. B., Schmeckpeper, B. J., Segal, A. H., Gowda, V. C., Wesselingh, S. L., Berger, J., Griffin, D. E., & Smith, K. D. (1997) · Journal of Neuroimmunology · doi:10.1016/s0165-5728(97)00020-9 · Cited by 89 · see citing works
López‐Erauskin, J., Galino, J., Bianchi, P., Fourcade, S., Andreu, A. L., Ferrer, I., Muñoz‐Pinedo, C., & Pujol, A. (2012) · Brain · doi:10.1093/brain/aws292 · Cited by 87 · see citing works
Asheuer, M., Bieche, I., Laurendeau, I., Moser, A., Hainque, B., Vidaud, M., & Aubourg, P. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi140 · Cited by 86 · see citing works
Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders
Poll-The, B. T., & Gärtner, J. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2012.03.011 · Cited by 85 · see citing works
Plasmalogen deficiency in cerebral adrenoleukodystrophy and its modulation by lovastatin
Khan, M., Singh, J., & Singh, I. (2008) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2008.05513.x · Cited by 84 · see citing works
Corzo, D., Gibson, W., Johnson, K., Mitchell, G., LePage, G., Cox, G. F., Casey, R., Zeiss, C., Tyson, H., Cutting, G. R., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/340849 · Cited by 85 · see citing works
Self-citationGalino, J., Ruíz, M., Fourcade, S., Schlüter, A., López‐Erauskin, J., Guilera, C., Jové, M., Naudí, A., García‐Arumí, E., Andreu, A. L., et al. (2011) · Antioxidants and Redox Signaling · doi:10.1089/ars.2010.3877 · Cited by 85 · see citing works
Kemp, S., & Wanders, R. J. A. (2007) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2006.10.001 · Cited by 82 · see citing works
- Authors
- Moser, H. W., Mahmood, A., & Raymond, G. V.
- Affiliations
- Kennedy Krieger Institute (US)
- Corresponding author
- Raymond, Gerald V
- ORCID
- Raymond, Gerald V
- Venue
- Nature Clinical Practice Neurology
- Published
- 2007-03
- Volume
- 3
- Issue
- 3
- Pages
- 140-151
- ISSN
- 1745-834X (ISSN-L)
- 1745-8358
- OpenAlex
- W2222090074
- Cited by
- 663
- References
- 99
- Citations by year
- 2026: 15 · 2025: 20 · 2024: 26 · 2023: 22 · 2022: 20 · 2021: 21 · 2020: 28 · 2019: 17 · 2018: 23 · 2017: 24 · 2016: 27 · 2015: 21 · 2014: 39 · 2013: 28 · 2012: 39
- FWCI
- 5.72
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Nature Clinical Practice Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Johns Hopkins University
- National Institutes of Health
- U.S. Public Health Service (M0-1-R00052)
- National Center for Research Resources
- NIH Clinical Center
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD039276, HD-10981, HD39276, P01HD010981)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- X-linked adrenoleukodystrophy, ABCD1 gene, very long chain fatty acids, peroxisomal membrane proteins, ABC transporters, adrenomyeloneuropathy, Addison's disease, newborn screening, prenatal diagnosis, carrier identification, Lorenzo's oil, genetic counseling, misdiagnosis
- MeSH terms
- Adrenoleukodystrophy, Drug Combinations, Erucic Acids, Humans, Magnetic Resonance Imaging, Phenotype, Triolein, Hematopoietic Stem Cell Transplantation
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